A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5706n100



Internal ID19016074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80548436..80601697hg38UCSC Ensembl
chr5:79844255..79897516hg19UCSC Ensembl
chr5:79880011..79933272hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3853262
hg1953262
hg1853262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022154, nsv1035021, nsv1034832
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5706n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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